@prefix this: . @prefix sub: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-gda: . @prefix dgn-void: . sub:head { this: np:hasAssertion sub:assertion ; np:hasProvenance sub:provenance ; np:hasPublicationInfo sub:publicationInfo ; a np:Nanopublication . } sub:assertion { dgn-gda:DGNbe87b689f8f9af09f5b00ac2c4b77684 sio:SIO_000628 miriam-gene:773 , lld:C0752124 ; a sio:SIO_001122 . } sub:provenance { sub:assertion dcterms:description "[Mutations in the brain-specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine type 1 (FHM1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ; wi:evidence dgn-void:source_evidence_curated ; sio:SIO_000772 miriam-pubmed:16325861 ; prov:wasDerivedFrom dgn-void:UNIPROT ; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:UNIPROT pav:importedOn "2017-01-25"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205 ; rdfs:comment "Gene-disease associations manually curated."@en ; rdfs:label "DisGeNET evidence - CURATED"@en . } sub:publicationInfo { this: dcterms:created "2017-10-17T13:11:10+02:00"^^xsd:dateTime ; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup ; dcterms:subject sio:SIO_000983 ; prv:usedData dgn-void:disgenetv3.0rdf ; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v5.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v5.0.0" . }